3

A genetic disease:
Infants with msud lack an enzyme to break down Amino Acids (proteins) in their diet, so the acids accumulate in their blood and tissues and become toxic, causing sweet-smelling urine, ear wax, etc-hence the name-but also brain damage. Each parent contributes one gene for this, so the parents are usually carriers. It is very rare (1:180, 000 births) and screened for in the blood test after birth.
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4

Blood tests:
Maple syrup urine disease is a genetic condition in which you are not able to metabolize certain Amino Acids (val, leu, ile). They build up in the body until they act like poisons. Babies get sick in a few days & may be in a coma in a week. Newborn screening tests, done at 24-48 hours of life, look for this and other conditions. Amino acid levels in the blood and dna testing confirm the diagnosis.
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8

Varies:
This autosomal recessive genetic disorder of branched chain ketoaciduria requires testing and strict dietary adherence for management. If this is followed, individuals can lead normal lives with excellent health, exempting them from the neurologic complications which are responsible for morbidity and mortality.
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9

1, 6, and 19:
Msud is caused when a tightly clustered group of proteins [branched-chain ketoacid dehydrogenase] does not work properly. This multienzyme complex has three subunits encoded by four different genes. Three of them - on chromosomes 1, 6, and 19, have been found to have mutations that can result in msud. The msud family support group (http://www.Msud-support.Org/) has more information.
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11

Genetic disorder:
Maple syrup urine disease is an inherited genetic disorder of protein breakdown. It is now often diagnosed by newborn screen. A good general information site can be found at http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0001411/.
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13

Probably not:
This disease is because of a defect in metabolism of leucine, isoleucine and valine, all present in protein. I believe that mead johnosn may be making a diet for this disease but it is a long time since i had the care of a msud patient----- a very difficult disease to treat and only diet can prevent the mental retardation that is otherwise inevitable.
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14

Yes, but...:
The downside of the diet
living on a maple syrup concoction for several days will probably leave you weak and with less muscle.
The major problem with the diet and that it lacks protein, fiber, and nutrients for bruits and vegetables. He risk muscle loss, increased fatigue, overall malnutrition.
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15

No:
Maltitol is a disaccaride produced by hydrogenation of maltose. It is a low calorie sweetener. It causes less decay. It is more slowly absorbed than sucrose which make it more suitable in diabetic patents.
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16

Yes:
It is rare, but often diagnosed during the neonatal period with neonatal screening. This is blood work done when a newborn infant is about 24 hours old. Making an early diagnosis is very important because dietary management will protect the body and brain from damage and possible death.
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17

Not Yet:
Msud is a very rare genetic d/o where one is unable to break down the Amino Acids (aa): leucine, isoleucine, & valine. The degree to which an individual might be affected varies. In the us it is diagnosed with neonatal screening which takes place when the baby is around 24 hrs old. Treatment is with dietary avoidance of these aa to spare brain damage and possible death.
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20

Obesity, pain:
Humans have a limit to how much fructose the bowel can absorb at any given time. If you max out this limit, the fructose stays in the bowel and causes pain, bloating, and diarrhea. This is not dangerous, however. Just uncomfortable. The real health problem with hfcs is that because of its sugar contents, it is a major contributor to obesity and its consequences such as type ii diabetes.
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